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Aifm1 Gene Detail
Summary
  • Symbol
    Aifm1
  • Name
    apoptosis-inducing factor, mitochondrion-associated 1
  • Synonyms
    AIF, AIFsh2, apoptosis-inducing factor, Pdcd8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349419
    NCBI Gene: 26926
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:47563821-47602440 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 25.68 cM, cytoband A6
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    955 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349419
 protein coding gene ChrX:47563821-47602440 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035693
 protein coding gene ChrX:43640099-43679090 (-)
A/J MGP_AJ_G0035676
 protein coding gene ChrX:43496003-43535265 (-)
AKR/J MGP_AKRJ_G0035596
 protein coding gene ChrX:44708151-44746502 (-)
BALB/cJ MGP_BALBcJ_G0035662
 protein coding gene ChrX:43145967-43184584 (-)
C3H/HeJ MGP_C3HHeJ_G0035366
 protein coding gene ChrX:43928210-43969249 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036191
 protein coding gene ChrX:44665208-44705812 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033043
 protein coding gene ChrX:41184553-41224602 (-)
CAST/EiJ MGP_CASTEiJ_G0034657
 protein coding gene ChrX:31506369-31543958 (-)
CBA/J MGP_CBAJ_G0035340
 protein coding gene ChrX:45921606-45963318 (-)
DBA/2J MGP_DBA2J_G0035494
 protein coding gene ChrX:43333023-43372729 (-)
FVB/NJ MGP_FVBNJ_G0035443
 protein coding gene ChrX:43051778-43092596 (-)
LP/J MGP_LPJ_G0035582
 protein coding gene ChrX:43991917-44030810 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035481
 protein coding gene ChrX:47354010-47394406 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036209
 protein coding gene ChrX:43535221-43573645 (-)
PWK/PhJ MGP_PWKPhJ_G0034356
 protein coding gene ChrX:30985147-31024998 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034201
 protein coding gene ChrX:32301479-32347712 (-)
WSB/EiJ MGP_WSBEiJ_G0034801
 protein coding gene ChrX:43177757-43216817 (-)



Homology
more
  • Human Ortholog
    AIFM1, apoptosis inducing factor mitochondria associated 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AIFM1, apoptosis inducing factor mitochondria associated 1
  • Synonyms
    AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL
  • Links
    NCBI Gene ID: 9131
    neXtProt AC: NX_O95831
    UniProt: O95831

  • Chr Location
    Xq26.1; chrX:130124666-130165879 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aifm1 mouse models; 3 with human AIFM1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    83 phenotypes from 6 alleles in 7 genetic backgrounds
    4 phenotypes from multigenic genotypes
    2 images
    61 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Hemizygous males and homozygous females exhibit variable levels of hair loss and late-onset, progressive, neural degeneration with ataxia, tremors, and loss of cerebellar and retinal cells. The degree of hair loss and ataxia in heterozygous females correlates with the extent of X-inactivation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    63
  • GO References
    28
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    828
  • Tissues
    18
  • cDNA Data
    101
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 26926 NCBI Gene Model | MGI Sequence Detail 38620 C57BL/6J ±  kb
    transcript NM_012019 RefSeq | MGI Sequence Detail 2249 ZRU/MplStud  
    polypeptide Q9Z0X1 UniProt | EBI | MGI Sequence Detail 612 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 105
      cDNA 101
      Primer pair 3
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10928, MGI:96222
    References
    more
    • Summaries
      All 154
      Developmental Gene Expression 16
      Diseases 1
      Gene Ontology 28
      Phenotypes 61
    • Earliest
      J:4489 Nielsen JT, et al., Electrophoretic Variation for X-Chromosome-Linked Phosphoglycerate Kinase (Pgk-1) in the Mouse. Genetics. 1977 Oct;87(2):319-325
    • Latest
      J:344117 Wang S, et al., Microtubule-dependent apical polarization of basement membrane matrix mRNAs in mouse epithelial cells. Cells Dev. 2023 Dec 14;177:203898
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory